EAHAD Factor VIII Variant Database
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Search Results: 1 unique variant retrieved.


  c.6200C>T
p.(Pro2067Leu) (Legacy AA No.2048)
Variant Type:
Point
Domain:
C1
Sequence Context:
CCA > CTA
Variant Effect:
Missense
Location:
Exon 21
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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